ClinVar Miner

Variants in gene SNTA1 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
400 67 0 16 19 0 3 35

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 0 1 1 0
likely pathogenic 0 0 2 0 0
uncertain significance 1 2 0 17 3
likely benign 1 0 17 0 16
benign 0 0 3 16 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003098.3(SNTA1):c.807T>C (p.Asn269=) rs73270015 0.02196
NM_003098.3(SNTA1):c.1350C>T (p.Phe450=) rs116747979 0.01203
NM_003098.3(SNTA1):c.555C>T (p.Val185=) rs34995247 0.00948
NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln) rs75025585 0.00904
NM_003098.3(SNTA1):c.1426-5T>C rs183939417 0.00221
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) rs572545726 0.00198
NM_003098.3(SNTA1):c.993C>T (p.Arg331=) rs143309917 0.00125
NM_003098.3(SNTA1):c.984C>T (p.Pro328=) rs138863915 0.00121
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) rs141724500 0.00067
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) rs150576530 0.00054
NM_003098.3(SNTA1):c.619C>T (p.Arg207Trp) rs139537086 0.00044
NM_003098.3(SNTA1):c.677G>A (p.Cys226Tyr) rs34479952 0.00041
NM_003098.3(SNTA1):c.784A>C (p.Thr262Pro) rs200316080 0.00041
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala) rs147964932 0.00021
NM_003098.3(SNTA1):c.1157C>T (p.Pro386Leu) rs200865199 0.00019
NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu) rs144860423 0.00019
NM_003098.3(SNTA1):c.430T>G (p.Ser144Ala) rs142978180 0.00017
NM_003098.3(SNTA1):c.311-20C>T rs200764326 0.00013
NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu) rs370531842 0.00007
NM_003098.3(SNTA1):c.567A>T (p.Ser189=) rs552315106 0.00006
NM_003098.3(SNTA1):c.589C>T (p.Arg197Trp) rs530603992 0.00006
NM_003098.3(SNTA1):c.1033G>A (p.Ala345Thr) rs150474420 0.00004
NM_003098.3(SNTA1):c.1158G>A (p.Pro386=) rs774320273 0.00004
NM_003098.3(SNTA1):c.820C>T (p.Arg274Trp) rs201763667 0.00004
NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg) rs786205848 0.00003
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val) rs121434500 0.00002
NM_003098.3(SNTA1):c.1437G>A (p.Leu479=) rs780011608 0.00002
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) rs771180054 0.00002
NM_003098.3(SNTA1):c.702-7C>G rs780688953 0.00002
NM_003098.3(SNTA1):c.*8C>T rs1399933359 0.00001
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426 0.00001
NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu) rs781703999 0.00001
NM_003098.3(SNTA1):c.312C>T (p.Gly104=) rs533476140
NM_003098.3(SNTA1):c.616C>T (p.Pro206Ser) rs745916117

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